Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?

Med J Aust. 2011 Sep 5;195(5):260-2. doi: 10.5694/mja11.10284.

Abstract

21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia, with an incidence of 1:14000 live births and equal prevalence among males and females. Newborns with the most severe "salt-wasting" form of 21-OHD are susceptible to salt-wasting crises in the first few weeks of life. This is associated with morbidity and mortality. 21-OHD newborn screening (NBS) is currently performed in many countries. Despite several prominent medical societies recommending 21-OHD NBS, no state in Australia currently screens for this condition. We report a case that illustrates the need to reconsider including 21-OHD in NBS. 21-OHD NBS can be reliable, sensitive and effective in reducing morbidity and mortality.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / epidemiology
  • Adrenal Hyperplasia, Congenital / genetics
  • Australia
  • Cross-Sectional Studies
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Health Services Needs and Demand / organization & administration
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening / organization & administration*
  • Phenotype
  • Quality Assurance, Health Care
  • Sensitivity and Specificity
  • Steroid 21-Hydroxylase / genetics

Substances

  • CYP21A2 protein, human
  • Steroid 21-Hydroxylase

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency